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Preconception genetic testing has become a vital tool in reproductive planning, especially for those pursuing IVF. By testing prospective parents and embryos before pregnancy, couples can identify potential genetic risks early and make informed decisions about embryo selection and pregnancy (Genetic Testing for Autism, Intellectual Disability, and other Neurodevelopmental Disorders). This proactive approach – via preimplantation genetic testing (PGT) during IVF – aims to prevent passing on serious genetic conditions and with the latest advances, can detect new genetic changes associated with disease. A common question is whether such testing can assess the risk of autism spectrum disorder (ASD) in a future child.

Understanding Autism Risk and Genetics

Autism spectrum disorder is a complex neurodevelopmental condition with a strong genetic component. Studies estimate that while genetics contributes to roughly 40–80% of autism risk, only around 30% of individuals on the spectrum have an identifiable genetic variant underlying their condition. Researchers have discovered dozens of autism-associated genes – for example, CHD8, SHANK3, ADNP, SYNGAP1, and others – where rare mutations or copy number changes can lead to ASD. Notably, many of these mutations arise spontaneously (de novo) in the embryo without a family history (Genetic Testing for Autism, Intellectual Disability, and other Neurodevelopmental Disorders). However, autism genetics are highly heterogeneous: known single-gene variants explain only a portion of cases, and each such variant can have variable penetrance (not everyone carrying it will develop autism). In addition, polygenic factors – the combined effect of many common genetic variants – also play a significant role in ASD risk (Progress in the genetics of autism spectrum disorder - PubMed). This means there is no single “autism gene”; instead, autism risk emerges from a complex interplay of multiple genes and, to a lesser extent, environmental influences. Family history is also an important component in the risk for autism in future children. 

Can Preimplantation Genetic Testing (PGT) Assess Autism Risk?

PGT has evolving capabilities to assess autism-related genetic risk, but also important limitations. Traditional PGT techniques include PGT-M (for specific known single-gene mutations in a family) and PGT-A (for chromosomal abnormalities). Today, advanced whole-genome sequencing of embryos (PGT-WGS) can combine all these analyses plus more in one comprehensive screening). This means an embryo’s DNA can be scanned not only for chromosomal issues or known familial mutations, but also for hundreds more disease-causing variants across its genome. In the context of autism, current whole-genome PGT can evaluate over 200 genetic forms of neurodevelopmental disorders before implantation (Genetic Testing for Autism, Intellectual Disability, and other Neurodevelopmental Disorders). Detecting such variants provides actionable insight – parents and doctors may avoid transferring an embryo with a high-risk mutation that could cause a severe form of ASD or related neurodevelopmental disorder.

How Orchid’s Genetic Testing Helps

Orchid offers a state-of-the-art approach to preconception testing that addresses some of these challenges. Orchid’s whole-genome embryo testing sequences essentially the entire genome of each embryo, integrating the analyses of PGT-A, PGT-M, and PGT-P into one extensive report (Orchid | Whole Genome Embryo Report). This means that in one embryo test, would-be parents get information on chromosomal health, specific single-gene disorders (including genetic forms of autism), and polygenic risk factors. For neurodevelopmental conditions like autism, Orchid’s test specifically screens for hundreds of known genetic causes of ASD, intellectual disability, and related disorders (Genetic Testing for Autism, Intellectual Disability, and other Neurodevelopmental Disorders). This broad scope dramatically expands on traditional tests that only look for a handful of predetermined conditions. By catching even de novo mutations (new random mutations) in autism-linked genes, Orchid’s screening can alert parents to embryos that carry a high-risk variant that might otherwise go undetected.

Through PGT with whole-genome sequencing, prospective parents can learn if an embryo carries certain high-impact genetic variants associated with ASD and make informed choices accordingly. However, autism’s complex genetic architecture means no test can offer 100% reassurance or prediction. Couples should be aware of the technology’s capabilities and its limits: it can assess known genetic red flags, but it cannot measure every factor that contributes to autism. Prospective parents are encouraged to consult with genetic counselors and their fertility specialists to carefully interpret test results, and choose the path that aligns with their values and hopes for their future family. With the right support, tools like Orchid’s whole-genome PGT can fit into a responsible reproductive plan – providing actionable data to help build a healthy family while respecting the complexity of conditions like autism.

Sources:

1. Slotnick, N. Genetic Testing for Autism, Intellectual Disability, and other Neurodevelopmental Disorders – Orchid Guides (Genetic Testing for Autism, Intellectual Disability, and other Neurodevelopmental Disorders) (Genetic Testing for Autism, Intellectual Disability, and other Neurodevelopmental Disorders) (Genetic Testing for Autism, Intellectual Disability, and other Neurodevelopmental Disorders)
2. Woodbury-Smith, M. et al. “Progress in the genetics of autism spectrum disorder.” Dev Med Child Neurol. (2018) (Progress in the genetics of autism spectrum disorder - PubMed)
3. Orchid Health – Whole Genome Embryo Report (Product Overview) (Orchid | Whole Genome Embryo Report) (Orchid | Whole Genome Embryo Report)
4. Barnes, J. “Polygenic embryo screening: four clinical considerations warrant further attention.” Hum Reprod. (2022) ( Polygenic embryo screening: four clinical considerations warrant further attention - PMC )
5. Reardon, S. “Prenatal Screening for Autism is an Ethical Dilemma.” Proto.life (2023)